Characterization of the mutational landscape of high-grade gliomas in a Latin American cohort

We conducted a targeted genomic analysis using next-generation sequencing techniques in 70 Chilean patients with high-grade gliomas from a national single-center referral institution. We focused on relevant molecular markers such as mutations in isocitrate dehydrogenase 1/2 (IDH), telomerase reverse transcriptase promoter (TERTp), histone 3 (H3) gene family, TP53 and PTEN, epidermal growth factor receptor (EGFR) gene amplification, and cyclin-dependent kinase inhibitor 2A (CDKN2A) deletions. Survival analyses were performed to assess the clinical relevance and their impact on patient prognosis. Additionally, we explored the endoplasmic reticulum stress-related gene ERN1 due to its potential role in high-grade gliomas. This study underscores the importance of glioblastoma research in underrepresented populations, providing insights into high-grade gliomas molecular characteristics within Latin America. Our findings contribute to the growing evidence suggesting molecular diversity across glioblastoma populations, offering a foundation for future international comparative studies. We conducted an observational retrospective cohort study, which included 70 patients aged 18 and above with a confirmed diagnosis of high-grade glioma based on the current WHO classification system for CNS tumors at the time. Patients who underwent total or partial resection surgery at the Asenjo Neurosurgery Institute between January 2014 and January 2020 were included in the study. 5 patients who underwent anterior temporal lobectomy for epilepsy treatment were prospectively included in the analysis as non-tumor tissue controls. We utilized the AmpliSeq™ for Illumina tool to create a customized amplicon panel covering specific genomic regions of interest of several neuro-oncology related genes.